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Patrick Yap

4PUBLICATIONS

31CO-AUTHORS

Genome structure and regulationNeonatologyMedical devicesNeurogenetics

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Publications (4)

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|Dec 17, 2025

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno

|Nov 08, 2024

Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.

Denis M Nyaga, Peter Tsai, Clare Gebbie

|Nov 05, 2023

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

Patrick Yap, Lisa G Riley, Purvi M Kakadia

|Mar 27, 2023

Molecular diagnosis of 405 individuals with autism spectrum disorder.

Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai

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Frequent Collaborators

2 joint publications

Yasunari Sakai

2 joint publications

Hitoshi Osaka

2 joint publications

Eriko Koshimizu

2 joint publications

Satoko Miyatake

2 joint publications

Naomichi Matsumoto

1 joint publications

Noriko Miyake

1 joint publications

Mitsuhiro Kato

1 joint publications

Shinji Saitoh

1 joint publications

Atsushi Takata

1 joint publications

Norio Ozaki

Frequent Collaborators

2 joint publications

Yasunari Sakai

2 joint publications

Hitoshi Osaka

2 joint publications

Eriko Koshimizu

2 joint publications

Satoko Miyatake

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